AFF4

ALF transcription elongation factor 4

Summary

The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]

Known Variants428 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs57880964	5:132,210,674	G/A	—	—
rs375967092	5:132,216,741	T/C	—	likely benign
rs1308795990	5:132,216,763	C/T	—	likely benign
rs1375913886	5:132,216,768	C/T	—	uncertain significance
rs112871745	5:132,216,777	G/A	—	uncertain significance
rs1581264701	5:132,216,793	C/T	—	likely benign
rs147739240	5:132,216,811	T/A	—	likely benign
rs2532422515	5:132,216,818	G/A	—	uncertain significance
rs758564505	5:132,216,829	T/C	—	likely benign
rs2046255303	5:132,216,832	A/G	—	likely benign
rs367545944	5:132,216,895	A/T	—	likely benign
rs73788218	5:132,217,067	C/A	—	benign
rs2525485	5:132,218,787	A/C	—	benign
rs73788220	5:132,218,950	A/G	—	benign
rs1684636321	5:132,219,013	T/C	—	likely benign
rs1361125827	5:132,219,025	T/C	—	likely benign
rs374222042	5:132,219,038	G/C	—	uncertain significance
rs1413801635	5:132,219,043	T/C	—	uncertain significance
rs1332078071	5:132,219,053	G/C	—	uncertain significance
rs745754457	5:132,219,075	G/A	—	benign
rs1278992253	5:132,219,076	G/A	—	uncertain significance
rs139490054	5:132,219,077	T/C	—	benign
rs375501684	5:132,219,084	G/C	—	likely benign
rs2150063555	5:132,219,089	A/T	—	uncertain significance
rs1277188630	5:132,219,107	C/T	—	uncertain significance
rs773844010	5:132,219,122	T/C	—	uncertain significance
rs761557820	5:132,219,129	G/A	—	likely benign
rs369587813	5:132,219,135	C/T	—	likely benign
rs1760036753	5:132,219,140	G/C	—	uncertain significance
rs772721392	5:132,219,154	G/C	—	uncertain significance
rs1760037891	5:132,219,166	G/A	—	uncertain significance
rs1424102789	5:132,219,178	G/A	—	uncertain significance
rs145016393	5:132,219,180	C/T	—	likely benign
rs2532430038	5:132,219,186	T/A	—	likely benign
rs1760039116	5:132,219,189	A/G	—	likely benign
rs1484284468	5:132,219,226	A/G	—	uncertain significance
rs764563387	5:132,219,230	G/C	—	uncertain significance
rs2532430496	5:132,219,269	G/A	—	likely benign
rs997633	5:132,219,304	A/T	—	benign
rs2243551	5:132,219,384	G/A	—	benign
rs45441396	5:132,220,748	C/T	—	benign
rs531149803	5:132,220,782	C/A	—	likely benign
rs202001642	5:132,220,783	G/A	—	uncertain significance
rs1369152967	5:132,220,795	G/A	—	uncertain significance
rs753670115	5:132,220,803	A/G	—	likely benign
rs754955298	5:132,220,804	T/A	—	uncertain significance
rs2532434622	5:132,220,807	G/T	—	uncertain significance
rs367741352	5:132,221,994	A/C	—	likely benign
rs1554073525	5:132,222,000	A/G	—	uncertain significance
rs147600850	5:132,222,008	G/A	—	likely benign
rs763176151	5:132,222,047	C/T	—	likely benign
rs755081153	5:132,222,057	T/C	—	conflicting classifications of pathogenicity
rs370085438	5:132,222,080	A/G	—	likely benign
rs752682575	5:132,222,086	G/A	—	likely benign
rs376480638	5:132,222,114	C/T	—	likely benign
rs146517201	5:132,222,115	G/A	—	likely benign
rs2150066345	5:132,223,211	A/G	—	uncertain significance
rs2532442112	5:132,223,215	A/G	—	likely benign
rs141975451	5:132,223,218	T/C	—	benign
rs780871066	5:132,223,223	T/C	—	conflicting classifications of pathogenicity
rs759710714	5:132,223,552	C/T	—	likely benign
rs769872229	5:132,223,553	G/A	—	uncertain significance
rs2532443746	5:132,223,575	G/A	—	uncertain significance
rs34434281	5:132,223,579	T/C	—	likely benign
rs140405448	5:132,223,654	A/G	—	uncertain significance
rs2532444519	5:132,223,668	T/G	—	likely benign
rs2532444528	5:132,223,670	T/A	—	uncertain significance
rs201234409	5:132,223,681	A/C	—	likely benign
rs893689859	5:132,223,775	G/A	—	likely benign
rs1760162741	5:132,223,788	C/T	—	uncertain significance
rs754506500	5:132,223,825	T/C	—	likely benign
rs373289956	5:132,223,859	G/C	—	likely benign
rs752058447	5:132,223,861	C/T	—	likely benign
rs759286799	5:132,224,779	A/G	—	likely benign
rs368081375	5:132,224,782	G/T	—	likely benign
rs752156289	5:132,224,784	C/T	—	uncertain significance
rs758910679	5:132,224,798	C/T	—	uncertain significance
rs780415481	5:132,224,799	G/A	—	uncertain significance
rs2150067444	5:132,224,801	G/A	—	uncertain significance
rs1231847789	5:132,224,825	G/A	—	uncertain significance
rs200457433	5:132,224,834	G/A	—	likely benign
rs755195360	5:132,224,842	A/G	—	likely benign
rs779261547	5:132,224,847	A/T	—	conflicting classifications of pathogenicity
rs2150067522	5:132,224,858	G/A	—	uncertain significance
rs772993130	5:132,224,859	C/G	—	uncertain significance
rs374993401	5:132,224,881	T/C	—	likely benign
rs12163973	5:132,226,664	G/A	intron variant	—
rs12163971	5:132,226,669	C/T	—	—
rs6596093	5:132,227,677	A/G	—	benign
rs201404281	5:132,227,824	T/C	—	likely benign
rs1259780553	5:132,227,836	C/T	—	likely benign
rs553374175	5:132,227,848	C/A	—	likely benign
rs1239781427	5:132,227,869	G/A	—	uncertain significance
rs1561482331	5:132,227,878	G/C	—	uncertain significance
rs1255383417	5:132,227,887	C/T	—	uncertain significance
rs77247092	5:132,227,892	G/A	—	likely benign
rs2150069583	5:132,227,903	G/C	—	uncertain significance
rs752814432	5:132,227,915	A/C	—	uncertain significance
rs770762827	5:132,227,926	T/C	—	likely benign
rs769422062	5:132,227,941	G/A	—	uncertain significance

Showing 100 of 428 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.